ORDO Find_IDs Find_Terms Annotation
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created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
20,514 entries
Label
Id
USH1 Orphanet_231169
USH2 Orphanet_231178
USH3 Orphanet_231183
XLTT Orphanet_231393
Dominant beta-thalassemia Orphanet_231226
Lane disease Orphanet_231031
Jarcho-Levin syndrome Orphanet_2311
Lucey-Driscoll syndrome Orphanet_2312
Beta-thalassemia major Orphanet_231214
Cooley anemia Orphanet_231214
Mediterranean anemia Orphanet_231214
Beta-thalassemia intermedia Orphanet_231222
HbC-beta-thalassemia syndrome Orphanet_231242
HbE-beta-thalassemia syndrome Orphanet_231249
Buckley syndrome Orphanet_2314